Table 1

Mutations of NPC1 gene in Niemann-Pick type C patients from different families. nt, nucleotide; aa, amino acid; Cmpd heteroz., compound heterozygote; Homoz., homozygote.

PatientmRNA sequence changePredicted protein alterationTransmembrane region affectedGenotype
ENZ 145nt 599/Del/6 bp (AGGCAC)Del aa 200–201 (Gln, Ala)Cmpd heteroz.
93.47nt 1875/Del/73 bpFrameshift/aa 625→stopCmpd heteroz.
92.31nt 2783 (A→C)aa 928/Gln→ProCmpd heteroz.
87.15nt 3107 (C→T)aa 1036/Thr→Met10Homoz.
94.17nt 3107 (C→T)aa 1036/Thr→Met10Cmpd heteroz.
94.41nt 3467 (A→G)aa 1156/Asn*→Ser14Cmpd heteroz.
nt 3557 (A→G)aa 1186/Arg*→His
ENZ146nt 3467 (A→G)aa 1156/Asn*→Ser14Cmpd heteroz.
91.78nt 3499 (T→C)aa 1167/Phe→LeuCmpd heteroz.
ENZ144nt 3613/Ins/4 bp (ACTT)Frameshift/aa 1205→stop15–16Cmpd heteroz.
  • * Conserved in human, mouse, C. elegans, and S. cerevisae orthologs.